Table 1.
NOTCH2 mutations identified in SMZL and MALT-L samples
| First mutation | Second variation | Confirmed | ||||||
| Cohort | Disease | Identifier | Gene | Protein | Gene | Protein | Consequence | Somatic |
| Discovery | SMZL | D-1 | c.6909dupC | p.I2304fsX9 | FS | Yes | ||
| Discovery | SMZL | D-2 | c.7198C>T | p.R2400X | NS | Yes | ||
| Discovery | SMZL | D-3 | c.7198C>T | p.R2400X | NS | Yes | ||
| Validation | SMZL | V-1 | c.4999G>A | p.V1667I | MS | Yes | ||
| Validation | SMZL | V-2 | c.6304A>T | p.K2102X | NS | Yes | ||
| Validation | SMZL | V-3 | c.6824C>A | p.A2275D | MS | Yes | ||
| Validation | SMZL | V-4 | c.6834delinsGCACG | p.T2280fsX12 | FS | Yes | ||
| Validation | SMZL | V-5 | c.6853C>T | p.Q2285X | NS | Yes | ||
| Validation | SMZL | V-6 | c.6853C>T | p.Q2285X | NS | Yes | ||
| Validation | SMZL | V-7 | c.6868G>A | p.E2290X | NS | N/A | ||
| Validation | SMZL | V-8 | c.6873delG | p.K2292fsX3 | FS | Yes | ||
| Validation | SMZL | V-9 | c.6909delC | p.I2304fsX2 | FS | N/A | ||
| Validation | SMZL | V-10 | c.6909delC | p.I2304fsX2 | FS | N/A | ||
| Validation | SMZL | V-11 | c.6909delC | p.I2304fsX2 | c.7072A>G | p.M2358V | FS/MS | N/A |
| Validation | SMZL | V-12 | c.6909dupC | p.I2304fsX9 | FS | Yes | ||
| Validation | SMZL | V-13 | c.6910delinsCCC | p.I2304fsX3 | FS | Yes | ||
| Validation | SMZL | V-14 | c.6973C>T | p.Q2325X | NS | N/A | ||
| Validation | SMZL | V-15 | c.7198C>T | p.R2400X | NS | Yes | ||
| Validation | SMZL | V-16 | c.7198C>T | p.R2400X | NS | Yes | ||
| Validation | SMZL | V-17 | c.7198C>T | p.R2400X | NS | Yes | ||
| Validation | SMZL | V-18 | c.7198C>T | p.R2400X | NS | Yes | ||
| Validation | SMZL | V-19 | c.7198C>T | p.R2400X | NS | Yes | ||
| Validation | SMZL | V-20 | c.7198C>T | p.R2400X | NS | Yes | ||
| Validation | SMZL | V-21 | c.7198C>T | p.R2400X | NS | N/A | ||
| Validation | SMZL | V-22 | c.7231G>T | p.E2411X | NS | Yes | ||
| Specificity | MALT-L | S-1 | c.7198C>T | p.R2400X | NS | N/A | ||
All NOTCH2 mutations identified through either whole genomic sequencing (discovery cohort) or targeted Sanger sequencing (validation and specificity cohorts) of the exonic regions of the NOTCH2 gene C terminus are shown. Where constitutional tissue was available for sequencing, somatic acquisition of each mutation was confirmed. One sample from the validation cohort of SMZL samples had two separate mutations. All other mutations were heterozygous. NS, non-sense; MS, missense; FS, frameshift. N/A indicates that constitutional tissue was not available for a given sample.